MCID: FML159
MIFTS: 16

Familial Periodic Paralyses

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Familial Periodic Paralyses

MalaCards integrated aliases for Familial Periodic Paralyses:

Name: Familial Periodic Paralyses 53
Familial Periodic Paralysis 71

Classifications:



External Ids:

UMLS 71 C0030443

Summaries for Familial Periodic Paralyses

NINDS : 53 Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal. The two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.

MalaCards based summary : Familial Periodic Paralyses, also known as familial periodic paralysis, is related to periodic paralyses and cardiac arrhythmia, and has symptoms including muscle weakness, myalgia and sciatica. Affiliated tissues include skeletal muscle, heart and small intestine.

Related Diseases for Familial Periodic Paralyses

Diseases in the Periodic Paralyses family:

Familial Periodic Paralyses

Diseases related to Familial Periodic Paralyses via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 periodic paralyses 11.7
2 cardiac arrhythmia 10.0
3 hypokalemic periodic paralysis, type 1 10.0
4 periodic paralysis 10.0

Symptoms & Phenotypes for Familial Periodic Paralyses

UMLS symptoms related to Familial Periodic Paralyses:


muscle weakness, myalgia, sciatica, muscle cramp, muscle rigidity, muscle spasticity

Drugs & Therapeutics for Familial Periodic Paralyses

Search Clinical Trials , NIH Clinical Center for Familial Periodic Paralyses

Genetic Tests for Familial Periodic Paralyses

Anatomical Context for Familial Periodic Paralyses

MalaCards organs/tissues related to Familial Periodic Paralyses:

40
Skeletal Muscle, Heart, Small Intestine, Testes

Publications for Familial Periodic Paralyses

Articles related to Familial Periodic Paralyses:

(show top 50) (show all 181)
# Title Authors PMID Year
1
The Mary Walker effect: Mary Broadfoot Walker. 61
31497797 2019
2
Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype. 61
30516834 2019
3
Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis. 61
25063199 2014
4
Thyrotoxic periodic paralysis: correct hypokalemia with caution. 61
23849367 2013
5
Genotype and phenotype analysis of patients with sporadic periodic paralysis. 61
21841462 2012
6
[Muscle channelopathies. Myotonias and periodic paralyses]. 61
21484581 2011
7
A practical approach to genetic hypokalemia. 61
21468196 2010
8
Elementary, my dear Dr. Allen: the case of barium toxicity and Pa Ping. 61
20458073 2010
9
Renal tubular acidosis presenting as respiratory paralysis: report of a case and review of literature. 61
20228475 2010
10
Muscle channelopathies and electrophysiological approach. 61
19966974 2008
11
A case report of familial periodic paralysis. 61
18232179 2007
12
Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation. 61
17399643 2007
13
Paroxysmal muscle weakness: the familial periodic paralyses. 61
17139526 2006
14
[Mutation of Thr704Met in SCN 4A causes normoKPP in a Chinese family]. 61
16870577 2006
15
Mutation screening in Chinese hypokalemic periodic paralysis patients. 61
16386935 2006
16
[Electrophysiological signs of muscle channelopathies by causal mutation]. 61
16340923 2005
17
The contribution of Dr. Mary Walker towards myasthenia gravis and periodic paralysis whilst working in poor law hospitals in London. 61
16019657 2005
18
Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis. 61
15711422 2005
19
Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family. 61
15642860 2005
20
Propofol-remifentanil target-controlled anesthesia in a patient with hyperkalemic familial periodic paralysis. 61
15281549 2004
21
Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. 61
15037716 2004
22
[Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)]. 61
12536108 2002
23
An expanding view for the molecular basis of familial periodic paralysis. 61
12117476 2002
24
Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. 61
12045162 2002
25
[Ion channel abnormalities ("channelopathies") in neurologic diseases]. 61
11883365 2002
26
Periodic paralysis: understanding channelopathies. 61
11898585 2002
27
[Hypokalemic thyrotoxic periodic paralysis: a case report]. 61
12017751 2002
28
Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). 61
14993329 2001
29
Hypokalaemia and paralysis. 61
11259688 2001
30
Defective slow inactivation of sodium channels contributes to familial periodic paralysis. 61
10851401 2000
31
Thyrotoxic hypokalemic periodic paralysis case report and review of the literature. 61
10812764 2000
32
A paper which changed clinical practice (slowly). Jacob Holler on potassium deficiency in diabetic acidosis (1946). 61
10656225 1999
33
[Thyrotoxic periodic paralysis]. 61
10487108 1999
34
Recurrent calcium oxalate urolithiasis in a man with familial periodic paralysis and hypokalemia. 61
10332462 1999
35
Defective slow inactivation of sodium channels contributes to familial periodic paralysis. 61
10227633 1999
36
Bidirectional ventricular tachycardia and familial periodic paralysis: a case report. 61
10407550 1999
37
Contemporary opinions about Mary Walker: a shy pioneer of therapeutic neurology. 61
9818874 1998
38
The familial periodic paralyses and nondystrophic myotonias. 61
9688022 1998
39
Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline. 61
9628312 1998
40
[Current status of clinical and molecular-biological research on familial periodic paralysis]. 61
9436444 1997
41
Index of suspicion. Case 3. Familial periodic paralysis. 61
9311251 1997
42
Prolonged muscle weakness following emergency tonsillectomy in a patient with familial periodic paralysis and infectious mononucleosis. 61
9188121 1997
43
Sea anemone toxin (ATX II) modulation of heart and skeletal muscle sodium channel alpha-subunits expressed in tsA201 cells. 61
8660409 1996
44
Periodic paralysis and ventricular tachycardia: possible role of calcium channel blockers. 61
8778698 1996
45
[Anesthesia in familial hyperkalemic periodic paralysis]. 61
8324104 1993
46
[Anesthesia in a case of hyperkalemic familial periodic paralysis]. 61
8465076 1993
47
Thyrotoxic periodic paralysis in the United States. Report of 7 cases and review of the literature. 61
1635436 1992
48
Atracurium use in a patient with familial periodic paralysis. 61
1878236 1991
49
Successful anesthetic management of a patient with hypokalemic familial periodic paralysis undergoing cardiac surgery. 61
1990915 1991
50
[A case of sporadic hypokalemic form of familial periodic paralysis]. 61
2099006 1990

Variations for Familial Periodic Paralyses

Expression for Familial Periodic Paralyses

Search GEO for disease gene expression data for Familial Periodic Paralyses.

Pathways for Familial Periodic Paralyses

GO Terms for Familial Periodic Paralyses

Sources for Familial Periodic Paralyses

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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